<p>After processing the data using the GATK pipeline, this filtering workflow was derived to identify SNPs which were associated with measures of susceptibility across the racial and etiology groups of cases. SNPs were filtered based on strength of association, coding effect, and functional prediction prior to testing for association with other ARDS phenotypes. *, The sample contains African American and Caucasian patients, so the EUR and ASW healthy controls from 1000 Genomes were used for comparison; **, In the 1000 Genomes Project exome sequence, the same 714,074 SNPs are present for all 440 EUR and ASW; §, HWE = Hardy Weinberg Equilibrium, p>0.0001; +, African American with pneumonia, African American with sepsis, Caucasian with pneumon...
Expression quantitative trait loci (eQTLs) are genetic markers associated with transcription of Ribo...
Recommendations for laboratories to report incidental findings from genomic tests have stimulated in...
Background: Pairwise single nucleotide polymorphisms (SNPs) are a cornerstone for genomic approache...
Acute respiratory distress syndrome (ARDS) is a lung condition characterized by impaired gas exchang...
BackgroundGenotypes generated in next generation sequencing studies contain errors which can signifi...
The diagnostic yield of exome and genome sequencing remains low (8-70%), due to incomplete knowledge...
The recent improvement in high throughput sequencing technologies has led to the sharp decrease in t...
New sequencing technology has enabled the identification of thousands of single nucleotide polymorph...
Next-generation sequencing has catapulted healthcare into a revolutionary genomics era. One such tec...
The re-analysis of nondiagnostic exome sequencing (ES) has the potential to increase diagnostic yiel...
analysis to predict the analytic sensitivity of WES using pathogenic variants identified on targete...
Effective identification of genomic variations is a crucial step to understand the relationship betw...
A significant challenge facing clinical translation of exome sequencing is meaningful and efficient ...
© 2015 Patwardhan et al.Background: Whole exome sequencing is increasingly used for the clinical eva...
The choice of an appropriate variant calling pipeline for exome sequencing data is becoming increa...
Expression quantitative trait loci (eQTLs) are genetic markers associated with transcription of Ribo...
Recommendations for laboratories to report incidental findings from genomic tests have stimulated in...
Background: Pairwise single nucleotide polymorphisms (SNPs) are a cornerstone for genomic approache...
Acute respiratory distress syndrome (ARDS) is a lung condition characterized by impaired gas exchang...
BackgroundGenotypes generated in next generation sequencing studies contain errors which can signifi...
The diagnostic yield of exome and genome sequencing remains low (8-70%), due to incomplete knowledge...
The recent improvement in high throughput sequencing technologies has led to the sharp decrease in t...
New sequencing technology has enabled the identification of thousands of single nucleotide polymorph...
Next-generation sequencing has catapulted healthcare into a revolutionary genomics era. One such tec...
The re-analysis of nondiagnostic exome sequencing (ES) has the potential to increase diagnostic yiel...
analysis to predict the analytic sensitivity of WES using pathogenic variants identified on targete...
Effective identification of genomic variations is a crucial step to understand the relationship betw...
A significant challenge facing clinical translation of exome sequencing is meaningful and efficient ...
© 2015 Patwardhan et al.Background: Whole exome sequencing is increasingly used for the clinical eva...
The choice of an appropriate variant calling pipeline for exome sequencing data is becoming increa...
Expression quantitative trait loci (eQTLs) are genetic markers associated with transcription of Ribo...
Recommendations for laboratories to report incidental findings from genomic tests have stimulated in...
Background: Pairwise single nucleotide polymorphisms (SNPs) are a cornerstone for genomic approache...